神経線維腫症I型

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_001042492.3(NF1):c.1680del (p.Leu560fs)	NF1	Pathogenic	17	29548906	29548906	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3871-1G>A	NF1	Pathogenic	17	29562935	29562935	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3974+1G>C	NF1	Pathogenic	17	29563040	29563040	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.4044del (p.His1348fs)	NF1	Pathogenic	17	29576071	29576071	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4369A>C (p.Lys1457Gln)	NF1	Pathogenic	17	29586086	29586086	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.4526del (p.Arg1509fs)	NF1	Pathogenic	17	29587482	29587482	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)	NF1	Pathogenic	17	29587499	29587499	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4577+1G>T	NF1	Pathogenic	17	29587534	29587534	G	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.4743dup (p.Glu1582fs)	NF1	Pathogenic	17	29592260	29592261	G	GA	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1857_1863del (p.Arg619fs)	NF1	Pathogenic	17	29552124	29552130	GAAGTTCC	G	criteria provided, single submitter	-